Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

In recent years, liquid chromatography with tandem mass spectrometry (LC–MS/MS) has
become a fundamental technology in clinical practice. In Japan, the LC–MS/MS system is …

Abstract Acid Sphingomyelinase Deficiency (ASMD), or Niemann-Pick type A/B disease, is a
rare lipid storage disorder leading to accumulation of sphingomyelin and its precursors …

Niemann-Pick disease type C (NPC) is an autosomal recessive disorder characterized by
progressive nervous degeneration. Because of the diversity of clinical symptoms and onset …

Lysosomal storage disorders (LSDs) are a type of inherited metabolic disorders in which
biomolecules, accumulate as a specific substrate in lysosomes due to specific individual …

Abstract As Niemann–Pick disease type C (NPC) is difficult to diagnose owing to its various
clinical symptoms; biomarker tests have been developed. Previously, we revealed urinary …

Lysosomal storage disorders (LSDs) are predominantly very rare recessive autosomal
neurodegenerative diseases. Sphingolipidoses, a sub-group of LSDs, result from defects in …

Abstract Background Niemann–Pick disease type C (NPC) is an autosomal recessive
inherited disorder with progressive neuronal degeneration. Because conventional …

Niemann-Pick type C (NPC) disease is a neurodegenerative lysosomal storage disease
caused by mutations in either the NPC1 or NPC2 gene. NPC is characterised by storage of …

We aim to review data on 3beta-hydroxysteroid dehydrogenase type II (3βHSD2) deficiency.
We identified 30 studies within the last decade on PubMed: 1 longitudinal study (N= 14), 2 …